A familial case of TRAPS in a Russian population

The article presents information on the current state of the problem of autoinflammatory diseases (AID) in rheumatology, reflects the clinical and demographic, laboratory and molecular genetic characteristics of the main monogenic AID (mAID), the most common in real clinical practice. Approaches to the diagnosis and differential diagnosis of these conditions are presented. The variants of classification and diagnostic criteria of the most studied mAID are discussed. The principles of treatment with an emphasis on the use of targeted therapy with interleukin 1 (IL1) inhibitors are shown. The clinical examples demonstrate the variants of late diagnosis of the mAID in adult patients with the disease onset in childhood. Different variants of multi-organ damage are considered. Effectiveness of therapy with IL1β inhibitor kanakinumab is demonstrated. Even in such cases it provided the possibility of significant symptoms regression and restoration of a satisfactory quality of life.

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“…Риск развития амилоидоза составляет 25%. Встречаются случаи заболевания среди родственников [7,20,21].…”

Section: п е р е д о в а яunclassified

Monogenic auto-inflammatory diseases in children and adults: what a rheumatologist should know

Салугина¹,

Федоров²,

Agafonova³

2019

Naučno-praktičeskaâ revmatologiâ

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“…Известно, что мутации с заменой цистеиновых остатков ассоциированы с более тяжелым течением и высоким риском формирования амилоидоза [14], тогда как мутации S59P и R92Q определяют более поздний дебют и относительно мягкое течение с минимальным риском поражения внутренних органов [15]. В зависимости от варианта генетической мутации, а также наличия генов-модификаторов TRAPS имеет значительную вариабельность клинических проявлений и прогноза, причем гетерогенность дебюта симптомов заболевания описана не только у больных с различными мутациями, но и у пациентов с наследственным TRAPS из одной семьи [16].…”

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Clinical and Genetic Characteristics, Target Therapy Results in Children with Traps Syndrome (on Clinical Surveillance Data)

Antsiferova

Cherkashina

Volf

et al. 2021

Naučno-praktičeskaâ revmatologiâ

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The complexity of diagnosing and predicting the course of TNF-receptor-associated periodic syndrome TRAPS determines the importance of studying the dependence of clinical manifestations on the variant of genetic mutation and the presence of modifier genes. We observed 5 children with an identified diagnosis of TRAPS. It was established that the disease onset in most cases is defined as a juvenile arthritis with systemic onset. Genetic variants with the replacement of cysteine residues are associated with an early debut and an aggressive course, the c.362G> A p.R121Q mutation is associated with an erosive damage to the spine. The case of a favorable course of TRAPS in siblings with a newly detected mutation is described. The development of urgent complications of TRAPS was revealed when basic therapy with canakinumab was canceled.

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Hereditary periodic fevers in children

Krutikhina,

Kudryashova

2024

Medicinskij sovet

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Fevers in children is a pressing challenge in paediatrics, as they are one of the most common symptoms people seek medical help. Autoinflammatory diseases (AIDs) constitute a group of diseases, where fever is one of the main symptoms, and fever attacks have a certain frequency and duration. Autoinflammatory diseases are rooted in the systemic aseptic inflammation associated with activation of the innate immune system, without elevated levels of autoantibodies. The most common autoinflammatory diseases include hereditary periodic fevers, among which are familial Mediterranean fever (FMF), HIDS/MKD, CAPS-, TRAPS-syndromes and rarer diseases (deficiency of natural interleukin receptor antagonists). The pathogenesis of this group of diseases is based on the process of accelerated formation of a supramolecular protein complex (inflammasome), which subsequently leads to the transition of the inactive form of IL1β into its active form. The clinical presentations of these diseases may be similar and include episodes of fever, abdominal pain, arthralgia, various rashes, etc., as well as an increase in acute phase parameters. These diseases are characterized by symptoms at certain intervals; they usually have intervals without showing any symptoms. Familial Mediterranean fever is characterized by a certain ethnic background (Armenians, Turks, Arabs, Jews). Today, molecular genetic testing is the most accurate method for diagnosing familial Mediterranean fever. Current therapy aims to prevent attacks of the disease, but it is also important to use symptomatic therapy to relieve the child’s condition when an attack has already developed. Modern treatment strategies include both drugs that have long been used in paediatric practice (colchicine, non-steroidal anti-inflammatory drugs (ibuprofen), glucocorticosteroids) and novel genetically engineered biological drugs (interleukin antagonists and tumour necrosis factor inhibitors, etc.).

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A familial case of TRAPS in a Russian population

Cited by 3 publications

References 11 publications

Monogenic auto-inflammatory diseases in children and adults: what a rheumatologist should know

Monogenic auto-inflammatory diseases in children and adults: what a rheumatologist should know

Clinical and Genetic Characteristics, Target Therapy Results in Children with Traps Syndrome (on Clinical Surveillance Data)

Hereditary periodic fevers in children

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